Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Short thumb, Cataract, Cryptorchidism |
OMIM:274205 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Spastic Paraparesis And Deafness |
|
Cataract, Hypogonadism |
OMIM:312910 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Satoyoshi Syndrome |
|
Tapered finger, Abnormality of the humerus, Abnormal femur morphology, Hypoplasia of the uterus, ... |
ORPHA:3130 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract, Hypogonadism |
OMIM:254000 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Ectopic kidney, Abnormal rib morphology, Hypoplasia of the uterus, Azo... |
OMIM:601076 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Cataract, Stage 5 chronic kidney disease, Brachydactyly |
OMIM:615995 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Failure to thrive, Pallor, Anorexia |
ORPHA:79283 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... |
ORPHA:206484 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... |
OMIM:612964 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Galactosemia Ii |
|
Cataract, Galactosuria |
OMIM:230200 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Cataract |
OMIM:619813 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... |
OMIM:614129 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:618117 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
Primary Lateral Sclerosis, Juvenile |
|
Pseudobulbar paralysis, Pallor, Dysphagia, Abnormal upper motor neuron morphology, Cerebral corti... |
OMIM:606353 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Deformed humerus, Abnormality of the uterus, Abn... |
ORPHA:2975 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:617690 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... |
OMIM:612310 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Cryptorchidism, Genu ... |
ORPHA:1381 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619203 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Elevate... |
OMIM:609441 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619665 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level |
OMIM:240950 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Satoyoshi Syndrome |
|
Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, Genu valgum,... |
OMIM:600705 |
Meckel Syndrome 12 |
|
Rocker bottom foot, Ureteral hypoplasia, Antecubital pterygium, Renal hypoplasia, Hypoplasia of t... |
OMIM:616258 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Short thumb, Short metacarpal, Cataract, Cryptorchidism |
ORPHA:2489 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Abnormal epiphysis morphology, Cataract, Abnormal femur morphology, Lower limb undergrowth |
ORPHA:2310 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Seckel Syndrome 7 |
|
Abnormal carpal morphology, Hypoplasia of the uterus, Hip dysplasia, Clinodactyly of the 5th fing... |
OMIM:614851 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Rudiger Syndrome |
|
Ureterovesical stenosis, Ovarian cyst, Bicornuate uterus, Micropenis, Short digit |
OMIM:268650 |
Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Renal tubular dysfunction, Cataract |
ORPHA:1380 |
Martsolf Syndrome 2 |
|
Cataract, Overlapping toe, Camptodactyly of finger, Hypogonadotropic hypogonadism, Developmental ... |
OMIM:619420 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Familial Focal Epilepsy With Variable Foci |
|
Focal cortical dysplasia, Polymicrogyria, Pallor, Hemimegalencephaly |
ORPHA:98820 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Split foot, Split hand, Hand monodactyly, Cataract |
OMIM:183800 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Failure to thrive, Pallor, Dysphagia |
OMIM:613561 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Fanconi Anemia, Complementation Group I |
|
Absent septum pellucidum, Optic nerve hypoplasia, Microcephaly, Renal hypoplasia, Horseshoe kidne... |
OMIM:609053 |
Cyclic Vomiting Syndrome |
|
Attention deficit hyperactivity disorder, Pallor, Anorexia, Microcephaly |
OMIM:500007 |
Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Brachydactyly |
ORPHA:247768 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Uterine leiomyosarcoma, Uterine leiomyoma, Cataract, Vaginal neoplasm |
ORPHA:523 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis, Cataract |
OMIM:610156 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Cataract, Renal insufficiency, Cryptorchidism, Hand polyd... |
ORPHA:2377 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... |
OMIM:273250 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Aplasia of the phalanges of the 3rd toe, Hypergonadotropic hypogonadism, Poly... |
ORPHA:2229 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Cataract, Broad hallux, Short metatarsal, Flattened epiphysis, Irregular ... |
ORPHA:1856 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Large for gestational age, Agitation, Pallor, Polyphagia |
ORPHA:324575 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight, Agitation, Pallor |
ORPHA:276608 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Ureteral agenesis, Vaginal atresia, Renal hypoplasia |
OMIM:617914 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Long thumb |
OMIM:619151 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,... |
ORPHA:2795 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor, Agitation, Polyphagia, Large for gestational age |
ORPHA:276556 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Acute Myelomonocytic Leukemia |
|
Pallor, Weight loss |
ORPHA:517 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Anorexia, Nephrocalcinosis, Pallor, Distal renal tubular acidosis, Failure to thrive |
OMIM:611590 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Increased circulating gonadotropin level, Bicornuate uterus, Hypoplasia... |
OMIM:615300 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
Fraser-Like Syndrome |
|
Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping toe |
OMIM:229230 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor, Agitation, Polyphagia, Large for gestational age |
ORPHA:276575 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Fumarase Deficiency |
|
Relative macrocephaly, Failure to thrive, Increased urine succinate level, Microcephaly, Mitochon... |
OMIM:606812 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor, Agitation, Polyphagia, Large for gestational age |
ORPHA:276580 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Cataract, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Vaginal hernia, Cataract, Broad thumb |
ORPHA:3173 |
Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Cataract, Cryptorchidism, Abnormal rib morphology, Ambiguous genitalia |
ORPHA:2772 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Estrogen Resistance |
|
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries |
OMIM:615363 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas... |
OMIM:266810 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Cataract, Iris coloboma |
OMIM:120433 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cryptorchidism, Cataract, Aplasia/Hypoplasia of the patella |
ORPHA:1069 |
Wagr Syndrome |
|
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Displacement of th... |
ORPHA:893 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the ribs, Cataract, Iliac crest serration, Flaring of lower rib cage, Cuppe... |
ORPHA:168549 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
Leishmaniasis |
|
Skin ulcer, Pallor, Anorexia, Weight loss |
ORPHA:507 |
Aniridia And Absent Patella |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the patella |
OMIM:106220 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Increased level of hippuric acid in urine, Microcephaly, Glutaric aciduria, Abnormal cerebral whi... |
OMIM:246450 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Coxa valga, Metatarsus adductus,... |
ORPHA:2557 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Delayed epiphyseal ossific... |
ORPHA:785 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Ovarian Fibrothecoma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology |
ORPHA:314478 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... |
ORPHA:90301 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
Spontaneous Periodic Hypothermia |
|
Pallor, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:29822 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor, Anorexia |
ORPHA:49827 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Cataract, Proteinuria, Glomerulonephritis, Supernumerary nipple, Short iliac bones, Metaphyseal w... |
OMIM:614376 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Hypospadias, Sclerocornea, Ovotestis, Hypoplasia of the uterus, Chordee, Peters anomaly... |
OMIM:309801 |
Non-Functioning Paraganglioma |
|
Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr... |
ORPHA:94080 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Dravet Syndrome |
|
Global brain atrophy, Obsessive-compulsive trait, Pallor, Impulsivity |
ORPHA:33069 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Cataract, Hypogonadism, External genital hypoplasia |
ORPHA:363741 |
Kcnq2-Related Epileptic Encephalopathy |
|
Abnormal globus pallidus morphology, Cerebral atrophy, Facial erythema, Abnormal cerebral white m... |
ORPHA:439218 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Proteinuria, Unilateral renal agenesis, Renal hypoplasia, Renal cyst, Stage 5 chroni... |
OMIM:137920 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... |
ORPHA:90796 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Small scrotum, Camptodactyly of finger, Rocker bottom foot, Developmental cataract, Mic... |
OMIM:610756 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Epiphyseal stippling, Cataract, Hypogonadism, Short distal phalanx of finger |
OMIM:302950 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal... |
OMIM:158330 |
Retinitis Pigmentosa 51 |
|
Pallor, Obesity |
OMIM:613464 |
Primary Myelofibrosis |
|
Anorexia, Cachexia, Pallor, Ecchymosis, Petechiae, Purpura |
ORPHA:824 |
X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor, Secondary microcephaly, Cerebellar hypoplasia, Cerebral atrophy |
OMIM:613839 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Cataract, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Failure to thrive, Pallor, Microcephaly |
OMIM:600462 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Large for gestational age, Increased body weight, Renal Fanconi syndrome, Agitation,... |
ORPHA:263455 |
Myopathic Ehlers-Danlos Syndrome |
|
Failure to thrive, Pallor |
ORPHA:536516 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Unilateral renal agenesis, Bifid distal phalanx of the thumb, Elevated circulating luteinizing ho... |
OMIM:618419 |
Hereditary Mucoepithelial Dysplasia |
|
Hematuria, Abnormal morphology of female internal genitalia, Cataract, Corneal dystrophy |
ORPHA:1839 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... |
ORPHA:90797 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Renal insufficiency, Cataract, Postaxial polydactyly, Postaxial hand polydactyly, Pos... |
OMIM:615986 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, External genital hypoplasia, Tapered finger, Cryptorchidism, Short fin... |
ORPHA:1867 |
Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Small for gestational age, Ectopic kidney, Microcephaly, Cryptorchidism, Patent du... |
OMIM:227646 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Cataract, Missing ribs, Cryptorchidism, Abnormal rib morphology, Mi... |
ORPHA:3301 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Cataract, Hypogonadism |
OMIM:601794 |
Idiopathic Pulmonary Hemosiderosis |
|
Pallor, Failure to thrive, Glomerulonephritis |
ORPHA:99931 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Restlessness, Agitation, Pallor, Dysphagia |
ORPHA:13 |
Rheumatic Fever |
|
Anorexia, Erythema, Nephrotic syndrome, Pallor, Hemiballismus |
ORPHA:3099 |
Congenital Heart Block |
|
Patent ductus arteriosus, Pallor |
ORPHA:60041 |
Hereditary Folate Malabsorption |
|
Failure to thrive, Cerebral calcification, Pallor, Anorexia |
ORPHA:90045 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone... |
ORPHA:99429 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Arachnodactyly, Lens subluxation, Microphakia |
ORPHA:171844 |
Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus, Clinodactyly, Decreased response to growth hormone stimulation test, Sh... |
OMIM:615866 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Cataract, Sclerocornea, Proximal placement of thumb, Cryptorchidism, Postaxial... |
ORPHA:139471 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Syndactyly, Cataract, Postaxial polydactyly, Postaxial hand polydactyl... |
OMIM:209900 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... |
ORPHA:276621 |
Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uterus, Bicornuate uterus, ... |
OMIM:601186 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microcornea, Increased circulating gonadotropin level, Hypoplasia of the uterus |
OMIM:110100 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Anorexia, Weight loss, Agitation, Pallor, Oral aversion |
ORPHA:134 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism |
OMIM:613546 |
Warburg Micro Syndrome 2 |
|
Cataract, Overlapping toe, Small scrotum, Cryptorchidism, Developmental cataract, Microcornea, Hy... |
OMIM:614225 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Fanconi Anemia, Complementation Group E |
|
Small for gestational age, Anemic pallor, Microcephaly, Ectopic kidney, Cryptorchidism, Prolonged... |
OMIM:600901 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor, Weight loss |
ORPHA:3226 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of... |
ORPHA:3109 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Proxim... |
OMIM:146255 |
Multiple Synostoses Syndrome 1 |
|
Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Lower limb underg... |
OMIM:186500 |
Fanconi Anemia, Complementation Group A |
|
Small for gestational age, Anemic pallor, Microcephaly, Ectopic kidney, Cryptorchidism, Prolonged... |
OMIM:227650 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Anorexia, Microcephaly, Leukoencephalopathy, Weight loss, 3-Methylglutaric aciduria, P... |
ORPHA:20 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Pallor, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:616307 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Missing ribs, Absent external genitalia, Rib fusion, Thin ribs, Urethral atresia, Aplasia of the ... |
OMIM:271520 |
Nail-Patella Syndrome |
|
Glenoid fossa hypoplasia, Patellar hypoplasia, Microcornea, Hypoplasia of first ribs, Iliac horns... |
OMIM:161200 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Pallor |
OMIM:615631 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... |
OMIM:203780 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Adrenal hyperplasia, Femoral bowing, Abnormal ovarian morphology, Vesicourete... |
ORPHA:95699 |
Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
Childhood Absence Epilepsy |
|
Pallor, Punding, Urinary incontinence, Attention deficit hyperactivity disorder |
ORPHA:64280 |
Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:848 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Abnormal spermatogenesis, Azoospermia, Ovarian cyst, Abnormality o... |
OMIM:228300 |
Plummer-Vinson Syndrome |
|
Pallor, Dysphagia, Geophagia |
ORPHA:54028 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis, Hypoparathyroidism, Cataract |
OMIM:146200 |
Sepsis In Premature Infants |
|
Small for gestational age, Oliguria, Pallor, Reversible renal failure, Decreased body weight, Pet... |
ORPHA:90051 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... |
ORPHA:29072 |
Hypoplasminogenemia |
|
Nephrolithiasis, Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Cold Agglutinin Disease |
|
Abnormal urinary color, Pallor |
ORPHA:56425 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Pallor |
ORPHA:90037 |
Fanconi Anemia, Complementation Group C |
|
Small for gestational age, Anemic pallor, Microcephaly, Ectopic kidney, Cryptorchidism, Prolonged... |
OMIM:227645 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum |
OMIM:140850 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Small scrotum, Femoral bowing, Micropenis, Arachnodactyly, Hyp... |
OMIM:201750 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Pallor |
ORPHA:90036 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Uterine leiomyoma, Renal cyst |
OMIM:617100 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finge... |
OMIM:274000 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Ureteral duplication, Bilobate gallbladder, Proximal placement of thumb... |
OMIM:261540 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Toe syndactyly, Corneal opacity, Cataract, Hy... |
ORPHA:709 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Proteinuria, Pallor, Weight loss |
ORPHA:35858 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... |
ORPHA:3464 |
Alternating Hemiplegia Of Childhood |
|
Impulsivity, Aggressive behavior, Anorexia, Oral-pharyngeal dysphagia, Pallor, Dysphagia, Failure... |
ORPHA:2131 |
Hb Bart'S Hydrops Fetalis |
|
Pallor |
ORPHA:163596 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Pallor |
OMIM:615234 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
Woodhouse-Sakati Syndrome |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi... |
ORPHA:83628 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia |
OMIM:617466 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... |
ORPHA:90793 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Septate vagina, Unilateral renal agenesis, Uterus didelp... |
ORPHA:2237 |
Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Anorexia, Erythema, Hypercalciuria, 3-Methylglutaric aciduria, Renal F... |
OMIM:557000 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Hypospadias, Sclerocornea, Precocious puberty, 2-3 toe syndactyly, Microcornea, Ectopia... |
OMIM:615877 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Degcags Syndrome |
|
Hypospadias, Small for gestational age, Oral-pharyngeal dysphagia, Abnormal renal medulla morphol... |
OMIM:619488 |
Chromosome 17Q12 Deletion Syndrome |
|
Long toe, Multicystic kidney dysplasia, Unilateral renal agenesis, Long fingers, Cryptorchidism, ... |
OMIM:614527 |
Waldenström Macroglobulinemia |
|
Renal insufficiency, Pallor, Anorexia, Purpura |
ORPHA:33226 |
Oeis Complex |
|
11 pairs of ribs, Congenital hip dislocation, Hydroureter, Bifid uterus, Epispadias, Cryptorchidi... |
OMIM:258040 |
Histiocytoid Cardiomyopathy |
|
Failure to thrive, Agenesis of corpus callosum, Pallor, Renal cyst |
ORPHA:137675 |
Dent Disease |
|
Enlarged epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Nephrocalcinosis, Aminoa... |
ORPHA:1652 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Pallor |
ORPHA:90033 |
Acro-Renal-Ocular Syndrome |
|
Microcornea, Triphalangeal thumb, Vesicoureteral reflux, Iris coloboma, Hypoplasia of the ulna, F... |
ORPHA:959 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Hypoplasia of penis, Aplasia of the ulna, Cryptorchidism... |
ORPHA:2879 |
Myhre Syndrome |
|
Abnormal penis morphology, Brachydactyly, Cataract, Hypospadias, External genital hypoplasia, Pre... |
ORPHA:2588 |
Bent Bone Dysplasia Syndrome 2 |
|
Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, Short sternum, Short ribs, Hypoplastic il... |
OMIM:620076 |
American Trypanosomiasis |
|
Pallor |
ORPHA:3386 |
Beta-Thalassemia Intermedia |
|
Proximal tubulopathy, Pallor, Skin ulcer |
ORPHA:231222 |
Panhypophysitis |
|
Polydipsia, Hyposthenuria, Pallor |
ORPHA:95513 |
Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Broad hallux, Arachnodactyly, Ectopia lentis, Spherophakia, Anterior syne... |
OMIM:601552 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Cataract, Cryptorchidism, Microcornea, Micropenis |
OMIM:610125 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Failure to thrive, Pallor |
ORPHA:331206 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Increased urinary glycerol, Pallor |
ORPHA:348 |
Dominant Beta-Thalassemia |
|
Failure to thrive in infancy, Pallor, Skin ulcer |
ORPHA:231226 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Femoral bowing, Anteriorly displaced genitalia, Foot oligodactyly, Aplasia/Hypopla... |
OMIM:276820 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Sheehan Syndrome |
|
Hyposthenuria, Pallor, Dry skin, Obesity |
ORPHA:91355 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... |
ORPHA:572333 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Renal salt wasting, Female external genitalia in ... |
ORPHA:168558 |
Esophageal Atresia |
|
Small for gestational age, Failure to thrive in infancy, Pallor, Dysphagia, Oral aversion |
ORPHA:1199 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Triphalangeal thum... |
ORPHA:857 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Renal salt wasting, Female external genitalia in ... |
ORPHA:289548 |
Non-Functioning Pituitary Adenoma |
|
Macroorchidism, Macroorchidism, postpubertal, Pallor |
ORPHA:91349 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Beta-Thalassemia Major |
|
Failure to thrive in infancy, Pallor, Skin ulcer |
ORPHA:231214 |
Adenohypophysitis |
|
Hyposthenuria, Pallor |
ORPHA:95512 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor, Weight loss |
ORPHA:98849 |
Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia... |
OMIM:619879 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Azoospermia, Pallor |
ORPHA:300298 |
Pituitary Apoplexy |
|
Abnormal caudate nucleus morphology, Pallor |
ORPHA:95613 |
Incontinentia Pigmenti |
|
Erythema, Pallor, Microcephaly |
OMIM:308300 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Pallor |
ORPHA:98870 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Pallor |
OMIM:266200 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
Hereditary Spherocytosis |
|
Pallor, Skin ulcer |
ORPHA:822 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hemoglobinuria, Pallor |
OMIM:194380 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged... |
ORPHA:3404 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of the brainstem, Cerebellar ... |
OMIM:253280 |
Diamond-Blackfan Anemia |
|
Small for gestational age, Hypospadias, Microcephaly, Horseshoe kidney, Pallor |
ORPHA:124 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Hemoglobinuria, Pallor |
OMIM:300908 |
Diamond-Blackfan Anemia 1 |
|
Pallor, Failure to thrive, Renal hypoplasia, Microcephaly |
OMIM:105650 |
Meckel Syndrome |
|
Ureteral duplication, Bowing of the long bones, Cataract, True hermaphroditism, Multicystic kidne... |
ORPHA:564 |
Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Chronic irritative conjunctivitis, Absent nipple, 3-4 finger cutaneou... |
ORPHA:69085 |
Tetraamelia Syndrome 1 |
|
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Urethral atresia, Hypoplas... |
OMIM:273395 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Idiopathic Hypereosinophilic Syndrome |
|
Failure to thrive, Pallor, Dysphagia |
ORPHA:3260 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Prolactinoma |
|
Pallor |
ORPHA:2965 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger syndactyl... |
OMIM:107480 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Hip dysplasia, Aplasia of the vag... |
ORPHA:457284 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Cataract, Urethrovaginal fistula, Preaxial hand polydactyly, Abnormal pelvis... |
ORPHA:93271 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Elevated urinary norepinephrine level, Hypercalciuria, Neph... |
ORPHA:653 |
Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hypermobility of toe joints, High urinary gonadotropin level, Ectopic kidney, Short toe, Enlargem... |
ORPHA:99413 |
Turner Syndrome |
|
Hypermobility of toe joints, High urinary gonadotropin level, Ectopic kidney, Short toe, Enlargem... |
ORPHA:881 |
Mosaic Monosomy X |
|
Hypermobility of toe joints, High urinary gonadotropin level, Ectopic kidney, Short toe, Enlargem... |
ORPHA:99228 |
Monosomy X |
|
Hypermobility of toe joints, High urinary gonadotropin level, Ectopic kidney, Short toe, Enlargem... |
ORPHA:99226 |
Craniorachischisis |
|
Bifid sternum |
ORPHA:63260 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Absent thumb, Absent radius, Renal hypoplasia, Aplasia of the uterus, ... |
OMIM:614083 |
Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Oliguria, Pallor, Acute kidney injury, Nephrotic range proteinuria, Decreased urine output |
ORPHA:544482 |
Tsh-Secreting Pituitary Adenoma |
|
Pallor, Weight loss |
ORPHA:91347 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Epispadias, Cryptorchidis... |
ORPHA:322 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... |
OMIM:303600 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Premature pubarche, Hypogonadotropic hypogonadism, Abnormal external genitali... |
ORPHA:90794 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Supernumerary nipple, Bifid uterus, Abnormal reproductive system morphology, Unilater... |
ORPHA:1521 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Rieger anomaly, Pseudoepiphyses of the metacarpals, Hypospadias, ... |
OMIM:194190 |
Von Hippel-Lindau Disease |
|
Multiple renal cysts, Pallor, Elevated urinary catecholamine level |
ORPHA:892 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Pallor, Macroscop... |
OMIM:233450 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pallor, Macrocephaly |
ORPHA:667 |
Coffin-Siris Syndrome 1 |
|
Hydroureter, Sandal gap, Hypospadias, Aplasia/Hypoplasia of the distal phalanges of the toes, Apl... |
OMIM:135900 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Pterygium, Rocker bottom foot, Cataract, Bifid uterus, Long fi... |
OMIM:256520 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, 2-3 toe syndactyly, Enlarged kidney, Ap... |
OMIM:618280 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor |
ORPHA:329971 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Bifid uterus, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of ... |
OMIM:236680 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Cryptorc... |
ORPHA:649 |
Okamoto Syndrome |
|
Urinary incontinence, Bifid uterus, Unilateral renal hypoplasia, Hip dysplasia, Astigmatism, Poly... |
ORPHA:2729 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Keratoconus, Cryptorchidism, Cystocele, Foot acroosteolysis, Osteolytic defects of the phalanges ... |
OMIM:130050 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Redundant neck skin, Renal hypoplasia, Renal cyst, Ureteral agenesis, Hypoplasia of the brainstem... |
OMIM:236500 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Small scrotum, Renal cyst, Camptodactyly of 2nd-5th fingers, Short pa... |
OMIM:601803 |
Loeys-Dietz Syndrome |
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Arachnodactyly, Camptodactyly of finger, Uterine rupture |
ORPHA:60030 |
Congenital Total Pulmonary Venous Return Anomaly |
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Patent ductus arteriosus, Pallor |
ORPHA:99125 |
Vascular Ehlers-Danlos Syndrome |
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Keratoconus, Congenital hip dislocation, Hypospadias, Cryptorchidism, Abnormal pupil morphology, ... |
ORPHA:286 |